National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Glutaricaciduria II is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Electron Transfer Flavoprotein, Deficiency of
- Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase, Deficiency of
- GA II
- Glutaricacidemia II
- Glutaric Acidemia II
- Glutaric Aciduria II
- Multiple Acyl-Co-A Dehydrogenation Deficiency
Glutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resulting the accumulation of several organic acids in the blood and urine. Two enzymes that may be deficient in glutaricaciduria II are electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF:QO). A complete enzyme deficiency causes a severe form of the disorder termed neonatal glutaricaciduria ll that is associated with a short life span and, sometimes, with specific physical birth defects. The less severe form of the disorder is termed late onset glutaricaciduria ll and has an extremely variable age of onset. Symptoms include nausea, vomiting, weakness and low blood sugar (hypoglycemia). Glutaricaciduria II is inherited as an autosomal recessive genetic disorder.
CLIMB (Children Living with Inherited Metabolic Diseases)
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FOD (Fatty Oxidation Disorders) Family Support Group
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Genetic and Rare Diseases (GARD) Information Center
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Lactic Acidosis Support Trust
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- Cheshire, CW10 0NQ
- United Kingdom
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- Fax: 1606837198
Organic Acidaemias UK
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Organic Acidemia Association
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- Pinole, CA 94564
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Last Updated: 1/15/1970
Copyright 2004 National Organization for Rare Disorders, Inc.
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